9545[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 904861	NM_148919.4(PSMB8):c.*231C>T	PSMB8	Single nucleotide variant (3 prime UTR variant)	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 356357	NM_148919.4(PSMB8):c.*178G>A	PSMB8	Single nucleotide variant (3 prime UTR variant)	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 904862	NM_148919.4(PSMB8):c.*140G>A	PSMB8	Single nucleotide variant (3 prime UTR variant)	Proteasome-associated autoinflammatory syndrome 1	GBenign
Select item 904863	NM_148919.4(PSMB8):c.*116C>T	PSMB8	Single nucleotide variant (3 prime UTR variant)	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 904864	NM_148919.4(PSMB8):c.*57C>T	PSMB8	Single nucleotide variant (3 prime UTR variant)	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 356358	NM_148919.4(PSMB8):c.*24G>T	PSMB8	Single nucleotide variant (3 prime UTR variant)	Proteasome-associated autoinflammatory syndrome 1	GBenign
Select item 356359	NM_148919.4(PSMB8):c.*8G>A	PSMB8	Single nucleotide variant (3 prime UTR variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 356360	NM_148919.4(PSMB8):c.*6G>C	PSMB8	Single nucleotide variant (3 prime UTR variant)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 1994621	NM_148919.4(PSMB8):c.826_*1del (p.Gln276fs)	PSMB8 (Q276fs +1 more)	Deletion (frameshift variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 2711704	NM_148919.4(PSMB8):c.829_830del (p.Ter277MetextTer?)	PSMB8	Deletion (frameshift variant +1 more)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 3242008	NM_148919.4(PSMB8):c.826C>G (p.Gln276Glu)	PSMB8 (Q272E +1 more)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 465423	NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln)	PSMB8 (R268Q +1 more)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 572482	NM_148919.4(PSMB8):c.814C>T (p.Arg272Trp)	PSMB8 (R268W +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 1983210	NM_148919.4(PSMB8):c.812A>G (p.Tyr271Cys)	PSMB8 (Y267C +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 1714834	NM_148919.4(PSMB8):c.807C>A (p.His269Gln)	PSMB8 (H265Q +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 356361	NM_148919.4(PSMB8):c.804G>A (p.Leu268=)	PSMB8	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 533957	NM_148919.4(PSMB8):c.800T>G (p.Leu267Arg)	PSMB8 (L263R +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 1053378	NM_148919.4(PSMB8):c.798C>G (p.Asp266Glu)	PSMB8 (D262E +1 more)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2120741	NM_148919.4(PSMB8):c.778_784dup (p.Thr262fs)	PSMB8 (T258fs +1 more)	Microsatellite (frameshift variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 1591229	NM_148919.4(PSMB8):c.762T>C (p.Asp254=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2016806	NM_148919.4(PSMB8):c.759A>C (p.Glu253Asp)	PSMB8 (E253D +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 1093565	NM_148919.4(PSMB8):c.756G>A (p.Lys252=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 662030	NM_148919.4(PSMB8):c.755A>C (p.Lys252Thr)	PSMB8 (K248T +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 2157583	NM_148919.4(PSMB8):c.743-5C>T	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 1248406	NM_148919.4(PSMB8):c.742+232C>T	PSMB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239292	NM_148919.4(PSMB8):c.742+85G>T	PSMB8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2034098	NM_148919.4(PSMB8):c.742+15C>T	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2053559	NM_148919.4(PSMB8):c.735T>C (p.Val245=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 954224	NM_148919.4(PSMB8):c.733G>A (p.Val245Ile)	PSMB8 (V245I +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 533961	NM_148919.4(PSMB8):c.732C>T (p.Gly244=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteasome-associated autoinflammatory syndrome 1 +3 more	GBenign/Likely benign
Select item 1019610	NM_148919.4(PSMB8):c.731G>T (p.Gly244Val)	PSMB8 (G240V +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 569029	NM_148919.4(PSMB8):c.731G>A (p.Gly244Asp)	PSMB8 (G244D +1 more)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 1443903	NM_148919.4(PSMB8):c.730G>A (p.Gly244Ser)	PSMB8 (G244S +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 1431256	NM_148919.4(PSMB8):c.727G>A (p.Gly243Arg)	PSMB8 (G239R +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 429759	NM_148919.4(PSMB8):c.724T>C (p.Ser242Pro)	PSMB8 (S238P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 533958	NM_148919.4(PSMB8):c.715G>A (p.Asp239Asn)	PSMB8 (D235N +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 1441295	NM_148919.4(PSMB8):c.710A>G (p.His237Arg)	PSMB8 (H233R +1 more)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 356362	NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys)	PSMB8 (Y230C +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 664917	NM_148919.4(PSMB8):c.695T>C (p.Ile232Thr)	PSMB8 (I228T +1 more)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2062078	NM_148919.4(PSMB8):c.694A>C (p.Ile232Leu)	PSMB8 (I228L +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 3013702	NM_148919.4(PSMB8):c.690G>A (p.Arg230=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 356363	NM_148919.4(PSMB8):c.686G>A (p.Arg229His)	PSMB8 (R225H +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2857238	NM_148919.4(PSMB8):c.685C>T (p.Arg229Cys)	PSMB8 (R225C +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 1135866	NM_148919.4(PSMB8):c.672C>T (p.Ala224=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 577366	NM_148919.4(PSMB8):c.670G>T (p.Ala224Ser)	PSMB8 (A220S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1021668	NM_148919.4(PSMB8):c.666A>C (p.Glu222Asp)	PSMB8 (E218D +1 more)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 1 +1 more	GUncertain significance
Select item 961098	NM_148919.4(PSMB8):c.662C>T (p.Pro221Leu)	PSMB8 (P217L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1547111	NM_148919.4(PSMB8):c.648G>C (p.Arg216=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2080148	NM_148919.4(PSMB8):c.647G>A (p.Arg216Gln)	PSMB8 (R216Q +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 2419153	NM_148919.4(PSMB8):c.646C>T (p.Arg216Trp)	PSMB8 (R212W +1 more)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 569157	NM_148919.4(PSMB8):c.633G>A (p.Met211Ile)	PSMB8 (M211I +1 more)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 1034913	NM_148919.4(PSMB8):c.625G>C (p.Gly209Arg)	PSMB8 (G205R +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome +1 more	GUncertain significance
Select item 857767	NM_148919.4(PSMB8):c.625G>A (p.Gly209Arg)	PSMB8 (G205R +1 more)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 1117352	NM_148919.4(PSMB8):c.624C>T (p.Tyr208=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 933294	NM_148919.4(PSMB8):c.608_611dup (p.Asn204fs)	PSMB8 (N204fs +1 more)	Duplication (frameshift variant)	Proteosome-associated autoinflammatory syndrome	GPathogenic
Select item 1972517	NM_148919.4(PSMB8):c.609G>A (p.Gly203=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2122173	NM_148919.4(PSMB8):c.606T>C (p.Ser202=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 29860	NM_148919.4(PSMB8):c.602G>T (p.Gly201Val)	PSMB8 (G197V +1 more)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 1	GPathogenic
Select item 1055323	NM_148919.4(PSMB8):c.600G>A (p.Thr200=)	PSMB8	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1566043	NM_148919.4(PSMB8):c.576G>A (p.Arg192=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 850521	NM_148919.4(PSMB8):c.575G>A (p.Arg192Gln)	PSMB8 (R192Q +1 more)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 1 +1 more	GUncertain significance
Select item 856695	NM_148919.4(PSMB8):c.574C>T (p.Arg192Trp)	PSMB8 (R188W +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 1961382	NM_148919.4(PSMB8):c.567T>C (p.His189=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 854329	NM_148919.4(PSMB8):c.562G>A (p.Glu188Lys)	PSMB8 (E188K +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 1627479	NM_148919.4(PSMB8):c.561T>C (p.Asp187=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 837279	NM_148919.4(PSMB8):c.556G>A (p.Val186Met)	PSMB8 (V182M +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 1137097	NM_148919.4(PSMB8):c.555C>T (p.Tyr185=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1694142	NM_148919.4(PSMB8):c.548T>C (p.Leu183Pro)	PSMB8 (L179P +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 2267957	NM_148919.4(PSMB8):c.547C>T (p.Leu183Phe)	PSMB8 (L179F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 953224	NM_148919.4(PSMB8):c.544G>A (p.Gly182Arg)	PSMB8 (G178R +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome +1 more	GUncertain significance
Select item 3036878	NM_148919.4(PSMB8):c.538-4A>G	PSMB8	Single nucleotide variant (intron variant)	PSMB8-related disorder	GLikely benign
Select item 1528194	NM_148919.4(PSMB8):c.538-8T>C	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 533960	NM_148919.4(PSMB8):c.538-10C>T	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1181310	NM_148919.4(PSMB8):c.538-70C>A	PSMB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277080	NM_148919.4(PSMB8):c.537+63C>T	PSMB8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2753082	NM_148919.4(PSMB8):c.537+18T>C	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1657534	NM_148919.4(PSMB8):c.537+17C>A	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1090767	NM_148919.4(PSMB8):c.537+8C>T	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 657742	NM_148919.4(PSMB8):c.517A>G (p.Ile173Val)	PSMB8 (I169V +1 more)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 650601	NM_148919.4(PSMB8):c.515T>C (p.Met172Thr)	PSMB8 (M168T +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 1693910	NM_148919.4(PSMB8):c.512G>A (p.Ser171Asn)	PSMB8 (S167N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089839	NM_148919.4(PSMB8):c.504T>C (p.Ser168=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 465422	NM_148919.4(PSMB8):c.501C>T (p.Leu167=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteasome-associated autoinflammatory syndrome 1 +4 more	GBenign/Likely benign
Select item 935206	NM_148919.4(PSMB8):c.493A>G (p.Met165Val)	PSMB8 (M161V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1438739	NM_148919.4(PSMB8):c.492C>T (p.Gly164=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 963136	NM_148919.4(PSMB8):c.487C>T (p.Arg163Trp)	PSMB8 (R163W +1 more)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 356364	NM_148919.4(PSMB8):c.483G>A (p.Gln161=)	PSMB8	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +3 more	GBenign/Likely benign
Select item 1385379	NM_148919.4(PSMB8):c.481C>T (p.Gln161Ter)	PSMB8 (Q157* +1 more)	Single nucleotide variant (nonsense)	Proteosome-associated autoinflammatory syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1416466	NM_148919.4(PSMB8):c.470A>G (p.Asn157Ser)	PSMB8 (N153S +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 2134785	NM_148919.4(PSMB8):c.467C>T (p.Ser156Phe)	PSMB8 (S152F +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 842792	NM_148919.4(PSMB8):c.451G>A (p.Ala151Thr)	PSMB8 (A151T +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 3023383	NM_148919.4(PSMB8):c.447G>T (p.Ser149=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2070971	NM_148919.4(PSMB8):c.447G>A (p.Ser149=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 3310972	NM_148919.4(PSMB8):c.446C>T (p.Ser149Leu)	PSMB8 (S145L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 763114	NM_148919.4(PSMB8):c.441A>G (p.Ser147=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteasome-associated autoinflammatory syndrome 1	GLikely benign
Select item 1694141	NM_148919.4(PSMB8):c.434G>A (p.Arg145His)	PSMB8 (R141H +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 726349	NM_148919.4(PSMB8):c.433C>T (p.Arg145Cys)	PSMB8 (R145C +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1377170	NM_148919.4(PSMB8):c.430G>A (p.Glu144Lys)	PSMB8 (E140K +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 1009278	NM_148919.4(PSMB8):c.422G>A (p.Arg141Gln)	PSMB8 (R137Q +1 more)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance

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